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International study allows better prediction of risk of hereditary cancer

Date:
January 15, 2014
Source:
IDIBELL-Bellvitge Biomedical Research Institute
Summary:
An international study has developed a refined method to identify people at risk for certain inherited cancer as a result of Lynch syndrome. The study has carried out clinical and basic researchers who are part of the INSIGHT (International Society for Gastroeintestinal Hereditary Tumors).

An international study has developed a refined method to identify people at risk for certain inherited cancer as a result of Lynch syndrome.

The study, published in Nature Genetics have carried out clinical and researchers who are part of the INSIGHT (International Society for Gastroeintestinal Hereditary Tumours ) . Coordinated by Maurizio Genuardi , University of Florence, and Finlay Macrae , Royal Melbourne Hospital , at work and have participated Capellá Marta Gabriel Pineda, Hereditary Cancer Program at the Catalan Institute of Oncology ( ICO- IDIBELL) .

The research is funded by the Spanish Ministry of Science and Innovation and the Scientific Foundation of the Spanish Association Against Cancer .

Hereditary cancer

All cancers are caused by abnormalities in the genetic material of cells , that make them lose their function and become malignant .

In 90 or 95 % of cases of people with cancer are born with genes functioning properly until, by external factors, for errors that may occur during normal DNA replication or by the passage of time, the genetic material , which had always worked properly, breaks down. When genes embrace alterations or mutations, the cells do not perform its function properly.

A small percentage of people are born with an error in the genetic material that greatly increases the chances of developing cancer. When this is the main cause for the occurrence of the disease, we talk about hereditary cancer or hereditary cancer predisposition. It is estimated that only between 5 and 10% of all tumors are hereditary.

Lynch syndrome

Lynch syndrome, also called hereditary nonpolyposis colorectal cancer polyposis (English HNPCC) is an inherited disease that increases the risk of various tumors , especially colon and endometrial cancer , being responsible for between 2 and 5 % of cases .

Research published in Nature genetics has focused on studying the genetic causes of Lynch syndrome. Often the result of the genetic study of patients with this syndrome is not informative , since relevance of genetic variants is unknown: one can not predict their biological significance and clinical implications. It is therefore unknown whether these patients have a higher risk of developing other cancers , or if their family members are also at risk .

The research team collected data from thousands of genetic variants identified in genes repairers worldwide, responsible candidates for Lynch syndrome . There has been a global effort to refine this information in a public database . The model, which has used the expertise of researchers and clinicians from around the world with the knowledge of the syndrome , which essentially allowed sequencing data can be translated into clinically useful information .

Through this cooperative effort it has achieved the classification of a large number of variants of unknown significance . The classification of a variant responsible for Lynch syndrome is critical for genetic counseling of families, allowing predictive study of families at risk and , if they are carriers , help them take preventive measures and adequate monitoring .


Story Source:

The above story is based on materials provided by IDIBELL-Bellvitge Biomedical Research Institute. Note: Materials may be edited for content and length.


Journal Reference:

  1. Bryony A Thompson, Amanda B Spurdle, John-Paul Plazzer, Marc S Greenblatt, Kiwamu Akagi, Fahd Al-Mulla, Bharati Bapat, Inge Bernstein, Gabriel Capellá, Johan T den Dunnen, Desiree du Sart, Aurelie Fabre, Michael P Farrell, Susan M Farrington, Ian M Frayling, Thierry Frebourg, David E Goldgar, Christopher D Heinen, Elke Holinski-Feder, Maija Kohonen-Corish, Kristina Lagerstedt Robinson, Suet Yi Leung, Alexandra Martins, Pal Moller, Monika Morak, Minna Nystrom, Paivi Peltomaki, Marta Pineda, Ming Qi, Rajkumar Ramesar, Lene Juel Rasmussen, Brigitte Royer-Pokora, Rodney J Scott, Rolf Sijmons, Sean V Tavtigian, Carli M Tops, Thomas Weber, Juul Wijnen, Michael O Woods, Finlay Macrae, Maurizio Genuardi, Adela Castillejo, Adrienne Sexton, Anthony K W Chan, Alessandra Viel, Amie Blanco, Amy French, Andreas Laner, Anja Wagner, Ans van den Ouweland, Arjen Mensenkamp, Artemio Payá, Beate Betz, Bert Redeker, Betsy Smith, Carin Espenschied, Carole Cummings, Christoph Engel, Claudia Fornes, Cristian Valenzuela, Cristina Alenda, Daniel Buchanan, Daniela Barana, Darina Konstantinova, Dianne Cairns, Elizabeth Glaser, Felipe Silva, Fiona Lalloo, Francesca Crucianelli, Frans Hogervorst, Graham Casey, Ian Tomlinson, Ignacio Blanco, Isabel López Villar, Javier Garcia-Planells, Jeanette Bigler, Jinru Shia, Joaquin Martinez-Lopez, Johan J P Gille, John Hopper, John Potter, José Luis Soto, Jukka Kantelinen, Kate Ellis, Kirsty Mann, Liliana Varesco, Liying Zhang, Loic Le Marchand, Makia J Marafie, Margareta Nordling, Maria Grazia Tibiletti, Mariano Ariel Kahan, Marjolijn Ligtenberg, Mark Clendenning, Mark Jenkins, Marsha Speevak, Martin Digweed, Matthias Kloor, Megan Hitchins, Megan Myers, Melyssa Aronson, Mev Dominguez Valentin, Michael Kutsche, Michael Parsons, Michael Walsh, Minttu Kansikas, Mohd Nizam Zahary, Monica Pedroni, Nao Heider, Nicola Poplawski, Nils Rahner, Noralane M Lindor, Paola Sala, Peng Nan, Peter Propping, Polly Newcomb, Rajiv Sarin, Robert Haile, Robert Hofstra, Robyn Ward, Rossella Tricarico, Ruben Bacares, Sean Young, Sergio Chialina, Serguei Kovalenko, Shanaka R Gunawardena, Sira Moreno, Siu Lun Ho, Siu Tsan Yuen, Stephen N Thibodeau, Steve Gallinger, Terrilea Burnett, Therese Teitsch, Tsun Leung Chan, Tom Smyrk, Treena Cranston, Vasiliki Psofaki, Verena Steinke-Lange, Victor-Manuel Barbera. Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. Nature Genetics, 2013; DOI: 10.1038/ng.2854

Cite This Page:

IDIBELL-Bellvitge Biomedical Research Institute. "International study allows better prediction of risk of hereditary cancer." ScienceDaily. ScienceDaily, 15 January 2014. <www.sciencedaily.com/releases/2014/01/140115100134.htm>.
IDIBELL-Bellvitge Biomedical Research Institute. (2014, January 15). International study allows better prediction of risk of hereditary cancer. ScienceDaily. Retrieved September 22, 2014 from www.sciencedaily.com/releases/2014/01/140115100134.htm
IDIBELL-Bellvitge Biomedical Research Institute. "International study allows better prediction of risk of hereditary cancer." ScienceDaily. www.sciencedaily.com/releases/2014/01/140115100134.htm (accessed September 22, 2014).

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